Associated Papers
Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.
Milosevic MD et al.
Molecular Diagnosis & Therapy, 2025
Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.
Akyüz A et al.
European Journal of Pediatrics, 2025
Immune dysregulation in glycogen storage disease 1b extends beyond neutropenia.
Gehlhaar A et al.
Human Immunology, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
Wang Z et al.
The Journal of International Medical Research, 2023
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors.
Murko S et al.
Molecular Genetics and Metabolism Reports, 2023
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 2023
Immune dysregulation in Glycogen Storage Disease 1b - a CyTOF approach.
Gehlhaar A et al.
Research Square, 2023
Sodium-glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
Kaczor M et al.
Jimd Reports, 2022
The natural history of glycogen storage disease type Ib in England: A multisite survey.
Halligan R et al.
Jimd Reports, 2021
Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.
Du C et al.
Bmc Medical Genomics, 2021
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH et al.
Frontiers in Endocrinology, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).
Eghbali M et al.
Orphanet Journal of Rare Diseases, 2020
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
Skakic A et al.
Clinical Genetics, 2018
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
Choi R et al.
Annals of Laboratory Medicine, 2017
[History case of multiple hepatic adenomas in adolescent with severe course of glycogen storage disease type lb].
Surkov AN et al.
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, 2014
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013